OBJECTIVE: To provide an overview of the congenital adrenal hyperplasias (CAHs) and their management during pregnancy.METHODS: Pathways of steroid biosynthesis and inherited deficiencies of required enzymes are reviewed, and applications to prenatal diagnosis and treatment of affected fetuses are discussed.RESULTS: The CAHs are a group of inherited enzymatic defects of adrenal steroid biosynthesis. During pregnancy, maternal problems are confined to women with 21-hydroxylase deficiency, 11b-hydroxylase deficiency, and 3b-hydroxysteroid dehydrogenase deficiency because other adrenal enzyme deficiencies are incompatible with fertility. The interposition of the placenta on the hypothalamic-pituitary-adrenal axis has a major effect on clinical evaluation of CAH during pregnancy. Women with severe forms of CAH have decreased fertility rates because of oligo-ovulation, and successful conception requires a combination of good therapeutic compliance, careful endocrine monitoring, and often induction of ovulation. 21-Hydroxylase deficiency in the fetus can now be diagnosed accurately prenatally by endocrine testing and molecular genetic techniques. Prenatal diagnosis of 11b-hydroxylase deficiency in the fetus by endocrine testing is not as sensitive. Prevention of masculinization of affected female fetuses by corticosteroid suppression has been attempted in both 21-hydroxylase deficiency and 11b-hydroxylase deficiency CAH, with variable degrees of success. To date, no reports have been published of prenatal diagnosis or treatment of affected female fetuses with 3b-hydroxysteroid dehydrogenase deficiency CAH.CONCLUSION: Endocrine and genetic studies of CAH during pregnancy have improved the diagnosis and management.

Authors:

P R Garner

Publication Detail:

Type:
Journal Article

Journal Detail:

Title:
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
Volume:
2
ISSN:
1530-891X
ISO Abbreviation:
Endocr Pract
Publication Date:
1996 Nov-Dec